PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery

@inproceedings{Valente2016PRRT2IA,
  title={PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery},
  author={Pierluigi Valente and Enrico Castroflorio and Pia Rossi and Manuela Fadda and Bruno Sterlini and Romina Ines Cervigni and Cosimo Prestigio and Silvia Gioved{\`i} and Franco Onofri and Elisa Mura and Fabrizia C Guarnieri and Antonella Marte and Marta Orlando and F. Zara and Anna Fassio and Flavia Valtorta and Pietro Baldelli and Anna Corradi and Fabio Benfenati},
  booktitle={Cell reports},
  year={2016}
}
Heterozygous mutations in proline-rich transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders, including epilepsy, kinesigenic dyskinesia, and migraine. Most of the mutations lead to impaired PRRT2 expression, suggesting that loss of PRRT2 function may contribute to pathogenesis. We show that PRRT2 is enriched in presynaptic terminals and that its silencing decreases the number of synapses and increases the number of docked synaptic vesicles at rest. PRRT2-silenced neurons… CONTINUE READING
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